Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 8818
Gene Symbol: DPM2
DPM2
dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
disease 0.700 None 1.000 3 0 2009 2016
Entrez Id: 8818
Gene Symbol: DPM2
DPM2
dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2016 2016